hypertrophic cardiomyopathy 17
Findings
No curated finding names hypertrophic cardiomyopathy 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013474), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DyspneaHPOHP:0002094
- 3 of 3 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 3 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 3 of 3 reported patients
- Angina pectorisHPOHP:0001681
- 1 of 3 reported patients
- PalpitationsHPOHP:0001962
- 1 of 3 reported patients
- Atrial fibrillationHPOHP:0005110
- 0 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- JPH2HGNC:14202
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 17
- Also called
- cardiomyopathy, familial hypertrophic, type 17cardiomyopathy, hypertrophic, 17CMH17hypertrophic cardiomyopathy caused by mutation in JPH2hypertrophic cardiomyopathy type 17JPH2 hypertrophic cardiomyopathy